Rare penetrant mutations confer severe risk of common diseases.

Petko FizievJeremy McRaeJacob C UlirschJacqueline S DronTobias HampYanshen YangPierrick WainschteinZijian NiJoshua G SchraiberHong GaoDylan CableYair FieldFrancois AguetMarc FasnachtAhmed MetwallyJeffrey RogersTomas Marques-BonetHeidi L RehmAnne O'Donnell-LuriaAmit V KheraKyle Kai-How Farh

Published in: medRxiv : the preprint server for health sciences (2023)

Rare variant polygenic risk scores identify individuals with outlier phenotypes in common human diseases and complex traits.

Keyphrases

endothelial cells
early onset
genome wide
gene expression
pluripotent stem cells